Varaico: Literature-Extracted Genetic Variants

FURIN

795 papers

RefSeq Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branc...

Pfam Domains

S8_pro-domainaa 33–107UCSCPeptidase S8 pro-domain

Peptidase_S8aa 144–427UCSCSubtilase family

P_proproteinaa 484–570UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

furin, paired basic amino acid cleaving enzyme

HGNC Previous Symbols

PCSK3; FUR; PACE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002569.4

p.P39delFs

c.117delT

Surrounding Variants

1 paper

NM_002569.4

p.P39insFs

c.116_117insT

1 paper

NM_002569.4

p.P39S

c.115C>T

1 paper

NM_002569.4

p.G40delFs

c.118delG

2 papers

NM_002569.4

p.R37H

c.110G>A

3 papers

NM_002569.4

p.R37C

c.109C>T

1 paper

NM_002569.4

p.V36A

c.107T>C

2 papers

NM_002569.4

p.A43T

c.127G>A

5 papers

NM_002569.4

p.A43V

c.128C>T

1 paper

NM_002569.4

p.A35_V36delFs

c.104_107del4

1 paper

NM_002569.4

p.W34_A35insFs

c.102_103insA

1 paper

NM_002569.4

p.A45delFs

c.133_134delGC

1 paper

NM_002569.4

p.T33T

c.99G>A